Mutagenetix > Incidental Mutation

Incidental Mutation 'I0000:Ccdc81'

7847

Institutional Source

Beutler Lab

Gene Symbol

Ccdc81

Ensembl Gene

ENSMUSG00000039391

Gene Name

coiled-coil domain containing 81

Synonyms

4921513D09Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.137) question?

Stock #

I0000 (G3) of strain 635

Quality Score

Status

Validated

Chromosome

Chromosomal Location

89515356-89552837 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 89547259 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 43 (L43P)

Ref Sequence

ENSEMBL: ENSMUSP00000117788 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041195] [ENSMUST00000131966]

AlphaFold

Q9D5W4

Predicted Effect

probably damaging
Transcript: ENSMUST00000041195
AA Change: L43P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000044087
Gene: ENSMUSG00000039391
AA Change: L43P

Domain	Start	End	E-Value	Type
Pfam:DUF4496	29	165	2.7e-47	PFAM
low complexity region	224	233	N/A	INTRINSIC
low complexity region	344	355	N/A	INTRINSIC
coiled coil region	434	468	N/A	INTRINSIC
low complexity region	623	631	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000131966
AA Change: L43P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000117788
Gene: ENSMUSG00000039391
AA Change: L43P

Domain	Start	End	E-Value	Type
Pfam:DUF4496	28	165	2e-41	PFAM

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 90.9%
3x: 86.6%

Validation Efficiency

67% (62/92)

Allele List at MGI

Other mutations in this stock

Total: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acacb	T	C	5: 114,376,716 (GRCm39)	V1933A	probably damaging	Het
Acsm4	T	A	7: 119,310,415 (GRCm39)	F467I	probably damaging	Het
Ankrd55	A	T	13: 112,485,259 (GRCm39)		probably benign	Het
Bfsp1	T	C	2: 143,687,888 (GRCm39)	Y179C	probably damaging	Het
Ccdc61	A	G	7: 18,637,474 (GRCm39)	I51T	probably damaging	Het
Ddias	A	G	7: 92,515,848 (GRCm39)	V15A	possibly damaging	Het
Dpp6	A	T	5: 27,603,920 (GRCm39)	T62S	probably benign	Het
Ereg	G	A	5: 91,237,068 (GRCm39)	C129Y	probably benign	Het
Fras1	G	A	5: 96,888,688 (GRCm39)	G2745S	probably damaging	Het
Gzf1	C	T	2: 148,528,540 (GRCm39)		probably benign	Het
Herc2	T	A	7: 55,786,477 (GRCm39)		probably benign	Het
Hsd17b4	A	G	18: 50,293,295 (GRCm39)	D278G	probably benign	Homo
Ifitm3	A	G	7: 140,590,441 (GRCm39)	S40P	possibly damaging	Het
Klf5	C	T	14: 99,540,911 (GRCm39)	T307M	probably damaging	Homo
Lnpep	A	T	17: 17,799,233 (GRCm39)	C141S	probably damaging	Homo
Mmp19	A	T	10: 128,634,329 (GRCm39)	D362V	probably benign	Het
Or4a72	T	C	2: 89,405,497 (GRCm39)	Y191C	probably damaging	Het
Pnpla6	G	A	8: 3,592,322 (GRCm39)	A1222T	probably benign	Het
Rbm26	C	A	14: 105,391,003 (GRCm39)	R161L	unknown	Homo
Selenon	G	A	4: 134,270,012 (GRCm39)		probably benign	Het
Septin11	A	G	5: 93,313,118 (GRCm39)	T322A	probably benign	Het
Sh3bp4	T	A	1: 89,065,518 (GRCm39)	D37E	probably benign	Het
Tango2	G	A	16: 18,130,530 (GRCm39)	R80W	possibly damaging	Homo
Tjap1	C	T	17: 46,569,955 (GRCm39)	C345Y	probably damaging	Homo
Wdr62	T	C	7: 29,944,752 (GRCm39)	D455G	probably benign	Het
Zbtb48	A	G	4: 152,104,315 (GRCm39)	I671T	probably benign	Het
Zfp318	T	C	17: 46,710,485 (GRCm39)	L736P	probably damaging	Homo

Other mutations in Ccdc81

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00763:Ccdc81	APN	7	89,518,823 (GRCm39)	splice site	probably benign
IGL01948:Ccdc81	APN	7	89,525,063 (GRCm39)	missense	possibly damaging	0.80
IGL02177:Ccdc81	APN	7	89,524,988 (GRCm39)	missense	possibly damaging	0.94
IGL02396:Ccdc81	APN	7	89,530,857 (GRCm39)	missense	probably benign
IGL02420:Ccdc81	APN	7	89,524,946 (GRCm39)	missense	probably benign	0.16
IGL02536:Ccdc81	APN	7	89,526,788 (GRCm39)	splice site	probably benign
IGL03195:Ccdc81	APN	7	89,545,916 (GRCm39)	missense	probably benign	0.05
IGL03397:Ccdc81	APN	7	89,546,036 (GRCm39)	missense	probably damaging	1.00
R0089:Ccdc81	UTSW	7	89,542,324 (GRCm39)	missense	possibly damaging	0.87
R0409:Ccdc81	UTSW	7	89,535,423 (GRCm39)	missense	probably benign	0.01
R0449:Ccdc81	UTSW	7	89,539,679 (GRCm39)	missense	probably damaging	1.00
R0490:Ccdc81	UTSW	7	89,536,970 (GRCm39)	missense	probably benign	0.28
R0511:Ccdc81	UTSW	7	89,542,504 (GRCm39)	missense	probably damaging	1.00
R0562:Ccdc81	UTSW	7	89,552,437 (GRCm39)	missense	probably benign	0.02
R0801:Ccdc81	UTSW	7	89,536,866 (GRCm39)	splice site	probably null
R0944:Ccdc81	UTSW	7	89,515,777 (GRCm39)	missense	probably damaging	0.99
R1006:Ccdc81	UTSW	7	89,515,769 (GRCm39)	missense	probably benign	0.03
R1334:Ccdc81	UTSW	7	89,515,769 (GRCm39)	missense	probably benign	0.03
R1526:Ccdc81	UTSW	7	89,525,081 (GRCm39)	missense	probably damaging	0.99
R1623:Ccdc81	UTSW	7	89,535,390 (GRCm39)	missense	probably benign	0.00
R1753:Ccdc81	UTSW	7	89,515,769 (GRCm39)	missense	probably benign	0.03
R1885:Ccdc81	UTSW	7	89,515,819 (GRCm39)	missense	possibly damaging	0.80
R1886:Ccdc81	UTSW	7	89,515,819 (GRCm39)	missense	possibly damaging	0.80
R1887:Ccdc81	UTSW	7	89,515,819 (GRCm39)	missense	possibly damaging	0.80
R1889:Ccdc81	UTSW	7	89,531,502 (GRCm39)	nonsense	probably null
R1964:Ccdc81	UTSW	7	89,535,361 (GRCm39)	missense	probably benign
R1997:Ccdc81	UTSW	7	89,547,271 (GRCm39)	missense	probably damaging	1.00
R3725:Ccdc81	UTSW	7	89,515,838 (GRCm39)	missense	possibly damaging	0.95
R5494:Ccdc81	UTSW	7	89,526,781 (GRCm39)	missense	probably damaging	1.00
R5660:Ccdc81	UTSW	7	89,542,337 (GRCm39)	missense	probably benign
R6275:Ccdc81	UTSW	7	89,531,519 (GRCm39)	missense	possibly damaging	0.59
R6434:Ccdc81	UTSW	7	89,525,352 (GRCm39)	missense	probably damaging	1.00
R6711:Ccdc81	UTSW	7	89,537,006 (GRCm39)	missense	probably damaging	0.98
R7287:Ccdc81	UTSW	7	89,542,331 (GRCm39)	missense	probably damaging	0.98
R7582:Ccdc81	UTSW	7	89,525,353 (GRCm39)	missense	probably damaging	0.99
R7914:Ccdc81	UTSW	7	89,524,988 (GRCm39)	missense	possibly damaging	0.94
R7976:Ccdc81	UTSW	7	89,515,723 (GRCm39)	nonsense	probably null
R7977:Ccdc81	UTSW	7	89,525,319 (GRCm39)	missense	probably damaging	1.00
R7987:Ccdc81	UTSW	7	89,525,319 (GRCm39)	missense	probably damaging	1.00
R7991:Ccdc81	UTSW	7	89,539,609 (GRCm39)	missense	probably benign	0.01
R8002:Ccdc81	UTSW	7	89,525,343 (GRCm39)	missense	probably benign
R8309:Ccdc81	UTSW	7	89,526,786 (GRCm39)	critical splice acceptor site	probably null
R9031:Ccdc81	UTSW	7	89,542,358 (GRCm39)	missense	probably benign	0.03
RF018:Ccdc81	UTSW	7	89,515,906 (GRCm39)	splice site	probably null
X0061:Ccdc81	UTSW	7	89,526,697 (GRCm39)	missense	probably benign	0.00
Z1177:Ccdc81	UTSW	7	89,530,865 (GRCm39)	missense	probably damaging	0.99

Posted On

2012-11-05